A case of early onset diabetes with myotonic dystrophy type 1.
10.11817/j.issn.1672-7347.2023.220599
- Author:
Jinjing WAN
1
;
Liling ZHAO
2
;
Ping JIN
3
Author Information
1. Department of Endocrinology, Third Xiangya Hospital, Central South University, Changsha 410013, China. xbyxb@csu.edu.cn.
2. Department of Endocrinology, Third Xiangya Hospital, Central South University, Changsha 410013, China. xyxb2005@vip.163.com.
3. Department of Endocrinology, Third Xiangya Hospital, Central South University, Changsha 410013, China. ping.jin06@csu.edu.cn, xyxb2005@126.com.
- Publication Type:Journal Article
- Keywords:
diabetes;
dystrophia myotonica protein kinase;
myotonic dystrophy type 1
- MeSH:
Humans;
Myotonic Dystrophy/genetics*;
Abnormalities, Multiple;
Hospitals;
Universities;
Diabetes Mellitus
- From:
Journal of Central South University(Medical Sciences)
2023;48(6):930-934
- CountryChina
- Language:English
-
Abstract:
Myotonic dystrophy type 1 (DM1, OMIM 160900) is a rare autosomal dominant hereditary disease. A case of DM1 patient with early onset diabetes and decreased muscle strength was treated in the Department of Endocrinology, Third Xiangya Hospital, Central South University. The peripheral blood of the patient was collected to extract DNA for gene detection. It was found that the triple nucleotide CTG repeat in the 3'-untranslated region (3'-UTR) of the dystrophia myotonica protein kinase (DMPK) gene was more than 100 times, and the diagnosis of DM1 was clear. For diabetes patients with multiple system abnormalities such as muscle symptoms, attention should be paid to the screening of DM1, a rare disease.
